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Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
BACKGROUND: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50–60% of them. The cau...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688301/ https://www.ncbi.nlm.nih.gov/pubmed/31399107 http://dx.doi.org/10.1186/s13023-019-1170-x |